rs11611246

This variant is located in the WNK1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.02
p 3.0e-39
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele G
OR 0.02
p 2.0e-28
N 694,649
Large GWAS
European
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele G
OR 0.02
p 1.0e-26
N 650,000
Large GWAS
European
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele G
OR 0.02
p 2.0e-28
N 434,794
Meta-analysisLarge GWAS
European
Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)
Allele G
OR —
β 0.022
p 2.0e-12
N 334,487
Large GWAS
multi-ancestry
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele G
OR —
β 0.024
p 1.0e-11
N 309,889
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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Association of with‐no‐lysine kinase 1 and Serine/Threonine kinase 39 gene polymorphisms and haplotypes with essential hypertension in Tibetans
AssociationN=509Rufeng Shi et al.(2018)· Environmental and Molecular Mutagenesis

A case-control study in 204 hypertensive and 305 normotensive Tibetans identified WNK1 rs1468326 (allele A: 53.4% vs 42.9%, OR 1.60, 95% CI 1.02-2.62 for CA+AA genotypes) and STK39 rs6749447 (TT genotype protective: OR 0.49, 95% CI 0.19-0.95) as significantly associated with essential hypertension. The WNK1 haplotype AGACAGGAATCGT (H2) showed 1.57-fold increased hypertension risk (95% CI 1.02-2.41).

Traits studied:Blood pressure (systolic and diastolic)Essential hypertension
PubMedDOIMetascience Observatory

About WNK1

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

View all WNK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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